PReS-FINAL-2211: NOD2/CARD15 polymorphisms and clinical features in patients with non-infectious uveitis
نویسندگان
چکیده
Introduction Non-infectious uveitis represents an heterogeneous group of immune-mediated disorders affecting both the uveal tract and the adjacent structures. These diseases are important in clinical practice because they represent one of the most common cause of blindness even in the pediatric age and often require iimmunosuppressive therapy and a multidisciplinary approach. The aetiology of these inflammatory conditions remains unknown. Mutations affecting NOD2/CARD15 gene are responsible for a rare autosomal-dominant disorder, Blau Syndrome, which is characterized by the triad of granulomatous arthritis, skin rashes and uveitis.
منابع مشابه
Clinical and genetic factors associated with sacroiliitis in Crohn's disease.
BACKGROUND AND AIM Radiographic sacroiliitis (SI), often asymptomatic, is considered the most frequent extra-intestinal manifestation (EIM) of Crohn's disease (CD). Data on the association of SI with other clinical features of CD are limited. Association of SI with CARD15 polymorphisms has recently been suggested. In a multicenter study, we investigated the association of SI in CD patients with...
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BACKGROUND The etiology of Autoimmune chronic uveitis (ACU) is still unknown; NOD2/CARD15 gene mutations are responsible for the Blau Syndrome and can induce uveitis in animal models. PRESENTATION OF THE HYPOTHESIS Aim of our study was to assess if NOD2/CARD15 variants have a role in the etiology or in the clinical course of patients with ACU, either idiopathic or associated with other inflam...
متن کاملNOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome
PURPOSE To characterize the clinical features of a Chinese pedigree with Blau syndrome and to identify mutations in the NOD2/CARD15 (nucleotide-binding oligomerization domain containing 2/caspase recruitment domain family, member 15) gene. METHODS Clinical features of this family were evaluated. Genomic DNA was obtained from blood samples, and all exons of NOD2/CARD15 were amplified by polyme...
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Introduction Blau syndrome (BS) is a rare autosomal dominant, autoinflammatory syndrome characterized by the clinical triad of granulomatous, recurrent uveitis, dermatitis and symmetric arthritis. Arthritis is usually a polyarticular exuberant synovitis and tenosynovitis and represents the characteristic phenotypic feature. Uveitis occurs in most patients and commonly evolves to a panuveitis. I...
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Results 8 patients were diagnosed. The onset age was from 1 month to 5 years. Three of them were misdiagnosed as JIA and Takayasu's arteritis respectively. One case had family history. All patients has had typical rash, joints problem, bilateral pan-uveitis. Two had hearing lose, four had Takayasu's arteritis with hypertension, and two of them had renal artery stenosis with severe hypertension ...
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